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GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants...

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Detalles Bibliográficos
Autores principales: Kamphans, Tom, Krawitz, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119/
https://www.ncbi.nlm.nih.gov/pubmed/22826540
http://dx.doi.org/10.1093/bioinformatics/bts462
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author Kamphans, Tom
Krawitz, Peter M.
author_facet Kamphans, Tom
Krawitz, Peter M.
author_sort Kamphans, Tom
collection PubMed
description Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant. Availability: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account. Contact: peter.krawitz@gene-talk.de
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spelling pubmed-34631192012-12-12 GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes Kamphans, Tom Krawitz, Peter M. Bioinformatics Applications Notes Summary: Next-generation sequencing has become a powerful tool in personalized medicine. Exomes or even whole genomes of patients suffering from rare diseases are screened for sequence variants. After filtering out common polymorphisms, the assessment and interpretation of detected personal variants in the clinical context is an often time-consuming effort. We have developed GeneTalk, a web-based platform that serves as an expert exchange network for the assessment of personal and potentially disease-relevant sequence variants. GeneTalk assists a clinical geneticist who is searching for information about specific sequence variants and connects this user to other users with expertise for the same sequence variant. Availability: GeneTalk is available at www.gene-talk.de. Users can login without registering in a demo account. Contact: peter.krawitz@gene-talk.de Oxford University Press 2012-10-01 2012-07-23 /pmc/articles/PMC3463119/ /pubmed/22826540 http://dx.doi.org/10.1093/bioinformatics/bts462 Text en © The Author 2012. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Kamphans, Tom
Krawitz, Peter M.
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title_full GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title_fullStr GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title_full_unstemmed GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title_short GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes
title_sort genetalk: an expert exchange platform for assessing rare sequence variants in personal genomes
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463119/
https://www.ncbi.nlm.nih.gov/pubmed/22826540
http://dx.doi.org/10.1093/bioinformatics/bts462
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